| Variant ID | 29521 |
|---|---|
| Entrez Gene ID | 28468 |
| Gene | IGHV1-18 (GeneCards) |
| Location | hg19 14:106641673-106641673
hg38 14:106185011-106185011 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.106641673 G>A (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2211 |
| CADD Raw score (version 1.3) | 6.809692 (Deleterious) |
| FATHMM raw prediction score | 0.16466 (Tolerated) |
| Deleterious probability by DeFine | 0.4119 (Neutral) |
| Entrez Gene ID | 28468 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IGHV1-18 (GeneCards) |
| Number of variants in IGHV1-18 in this database | 1 (view all the variants) |
| Full name | immunoglobulin heavy variable 1-18 |
| Band | 14q32.33 |
| Other IDs | IMGT/GENE-DB: IGHV1-18 HGNC: HGNC:5549 |
| Other names | IGHV118 |
| Summary | None |
| Individual ID | 28714951.197 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |